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“Things to discover”

Magnús Karl Magnússon læknir og prófessor.

Magnús Karl Magnússon doctor and professor. Photography / University of Iceland

A new study of the body’s genetics and iron metabolism reveals genetic variables that have a significant effect on the incidence of anemia caused by iron deficiency, which is endemic in many parts of the world. Magnús Karl Magnússon, a scientist at Icelandic Genetics and a professor at the University of Iceland’s Faculty of Medicine, says that iron exchange has been little studied.

The study is published in the journal Communications Biology today and is by far the largest in its field but it was prepared by scientists from Icelandic Genetics and their colleagues within the Icelandic health system, the University of Iceland, the University of Copenhagen and the University of Cambridge.

Iron is one of the body’s trace elements that is most often lacking, especially in children and women of childbearing age. When assessing the burden of various diseases worldwide, iron deficiency and the accompanying iron deficiency anemia weigh very heavily.

Two sides of the same coin

“We are trying to understand the body’s iron metabolism. This is one of the areas of medicine that may have been underestimated in recent years, even though it is a big and important problem. We were able to do this research to shed light on these genetic factors that affect how the body handles the iron that enters it. Why some people are exposed to iron deficiency and why others even tend to get iron overload, which is perhaps the other side of this coin, “says Magnús Karl in a conversation with mbl.is.

In the study, genotypic data were scarce 250. 000 individuals from ÍE, the Danish Blood Bank and a blood donation study in the UK examined with a comprehensive genome study, in addition to which the effect of genetic variability on the concentration of blood measurements indicating iron metabolism was investigated.

A total of 48 genetic variables related to iron exchange in general were found, of which 29 which was not previously known to be related to iron. Some of these genetic mutations also affected whether individuals develop iron deficiency or iron overload. %. This genetic variation is present in about 11% of Icelanders. Genetic mutations were also found in genes that affect blood clotting and are particularly associated with iron deficiency anemia in women of childbearing potential, probably by affecting the amount of menstrual bleeding. Finally, there is a common genetic variation in a gene (TMPRSS6) which reduces the likelihood of inherited iron overload.

Found a number of factors

“We found an enormous number of factors and perhaps because this is under-researched, there are many things that remain to be discovered. What we are perhaps most interested in understanding is why some people, and especially women, are more prone to iron deficiency. We found quite a few genetic factors that could predict whether some women are exposed to iron deficiency while others. The strongest undiscovered genetic factor we found was DUOX2, but we do not know exactly how it works. Now we have to try to understand it, but we think it is likely that he supports how the body absorbs the iron from the food, “says Magnús Karl.

“Then there were other factors that we found that really only affect women. There were genetic factors that may have a greater effect on how much iron the body loses. It probably affects how much blood a woman loses during menstruation, but menstruation is probably the reason why women are more exposed to iron deficiency than men. This could help us identify women who need to be especially vigilant.

“The study thus significantly increases our understanding of the body’s iron metabolism. It sheds light on new regulatory proteins that affect various aspects of iron metabolism, its absorption, its transport through the body and loss from the body, for example during menstrual bleeding. It reveals for the first time common genetic defects that are related to iron deficiency, “says Magnús.

Less common but more studied

In addition to iron deficiency, there are diseases, Among other things, genetic diseases that cause iron overload in the body, and cause serious complications such as joint pain, liver crust, liver cancer, diabetes and heart problems. The study can also be used to screen for and even prevent the serious consequences of iron overload.

“Iron overload is a disease that is less common than iron deficiency, but may have been more genetically studied. We are even interested in the near future to use the genetic information available in Iceland to map this and may then be able to identify those who are overloaded earlier, before the iron overload causes clinical problems or starts to cause problems in the body, ” says Magnus.

“There is an opportunity to do this here in Iceland in connection with the genetic information we have and we may be able to use it to diagnose these individuals before the disease appears. This disease is subtle because the symptoms appear late and individuals are often not diagnosed until they start to have an effect, but it is easy to treat if it is diagnosed early. It is possible to prevent complications with simple interventions, “says Magnús.

He says that iron deficiency can also be a subtle disease, but more widespread is how widespread it is.

“Iron deficiency is a much bigger problem than iron overload because it is so common, perhaps especially a problem in the third world, which is perhaps why we have not focused on this before. . When we look at the burden of disease in the world, iron deficiency has one of the heaviest burdens because of how common it is in, for example, women of childbearing age in Africa. It is very important to get an insight into this disease from as many angles as possible because it is so common, “says Magnús.

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